ClinVar Miner

List of variants reported as likely pathogenic for CHARGE syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592 0.00001
NM_017780.4(CHD7):c.6956G>A (p.Arg2319His) rs765943226 0.00001
NM_017780.4(CHD7):c.2377-1G>A rs2150711063
NM_017780.4(CHD7):c.2613+1G>T rs587783432
NM_017780.4(CHD7):c.2613+1del rs1060503189
NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del) rs1804098493
NM_017780.4(CHD7):c.3201+1G>A rs1804103264
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu) rs1804153455
NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr) rs1554598013
NM_017780.4(CHD7):c.3523-2A>C rs2150764574
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.3989+2T>G
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg) rs770166812
NM_017780.4(CHD7):c.4669A>G (p.Arg1557Gly) rs1804990594
NM_017780.4(CHD7):c.5211-2_5227del rs1805310101
NM_017780.4(CHD7):c.5227C>T (p.Arg1743Cys)
NM_017780.4(CHD7):c.5300+216_5386delinsATCCAAACACACCATGT
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) rs1563656016
NM_017780.4(CHD7):c.5404+2T>C
NM_017780.4(CHD7):c.5534G>A (p.Gly1845Glu)
NM_017780.4(CHD7):c.5894+5G>A rs1805486327
NM_017780.4(CHD7):c.6035A>T (p.Glu2012Val) rs1805504949
NM_017780.4(CHD7):c.6104-2A>T rs1805513214
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly) rs1064794250
NM_017780.4(CHD7):c.6776-1G>A
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.7390_7419del (p.Lys2464_Pro2473del) rs2129650387
NM_017780.4(CHD7):c.7971+1G>T rs1554606274

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